John A. Moran Eye Center physician-researcher Paul S. Bernstein, MD, PhD, and his patients at the University of Utah played a key role in the recent discovery of the first genetic cause for a rare eye disease.... NEWS MEDICAL · 5 months
New treatment discovered for rare eye disease may prevent blindness  SCIENCE DAILY · 1 week
Patients with thyroid eye disease who used the minimally invasive insulin-like growth factor I blocking antibody, teprotumumab, experienced improvement in their symptoms, appearance and quality of life, according... more
Study sheds light on mechanisms that underlie a rare genetic condition  NEWS MEDICAL · 4 weeks
A team of researchers at CHU Sainte-Justine and Université de Montréal has shed light on the mechanisms that underlie a rare genetic condition by creating the... more
New genetic test to predict and prevent vision loss from glaucoma  NEWS MEDICAL · 4 weeks
Researchers have identified 107 genes that increase a person's risk of developing the eye disease glaucoma, and now developed a genetic test to detect those at... more
Study uncovers molecular mechanism that triggers a rare type of muscular dystrophy  NEWS MEDICAL · 3 weeks
A study led by the IBB-UAB has identified the molecular mechanism through which a protein, when carrying genetic mutations associated with a rare disease... more
New treatment effective at reversing the manifestations of thyroid eye disease  NEWS MEDICAL · 1 week
Patients with thyroid eye disease who used the minimally invasive insulin-like growth factor I blocking antibody, teprotumumab, experienced improvement in their symptoms, appearance and quality of... more
Finding the origins of angiosarcoma  NEWS MEDICAL · 1 week
In a new study published in the journal Nature Medicine on February 2020, scientists report some newly discovered reasons for the occurrence of a rare blood vessel wall cancer called angiosarcoma. This could one day help develop better... more
Missing link in rare inherited skin disease exposed  SCIENCE DAILY · 3 weeks
Hokkaido University scientists are getting closer to understanding how a rare hereditary disease impairs the skin's barrier function, which determines how well the skin is protected. more
New genetic screen for Huntington’s disease  NEWS MEDICAL · 3 weeks
Huntington’s disease is a genetic disease that is debilitating and progressive leading to severe brain damage and eventual death. In patients with this autosomal dominant disease, there is presence of a protein called the Huntingtin protein... more
Genome reference database can help predict disease-linked gene variants more accurately  NEWS MEDICAL · 4 weeks
Most diseases have a genetic component. To better understand disease, researchers led by the Garvan Institute of Medical Research are analysing genetic information to determine what... more
CDKL5 Deficiency Disorder designated with new disease code in WHO medical classification list  NEWS MEDICAL · 3 weeks
The rare genetic disease CDKL5 Deficiency Disorder has been designated with a new disease code in the International Classification of Diseases, the... more
Hokkaido University scientists reveal missing link in rare inherited skin disease  NEWS MEDICAL · 3 weeks
Hokkaido University scientists are getting closer to understanding how a rare hereditary disease impairs the skin's barrier function, which determines how well the skin is protected. more
Engineered living-cell blood vessel provides new insights to progeria  SCIENCE DAILY · 2 weeks
Scientists have developed the most advanced disease model for blood vessels to date and used it to discover a unique role of the endothelium in Hutchinson-Gilford Progeria Syndrome. This devastating... more
Study tracks milestones in the history of human disease genetics  NEWS MEDICAL · 3 weeks
Genetic discoveries over the past 25 years have substantially advanced understanding of both rare and common diseases, furthering the development of treatment and prevention for ailments ranging from... more
Mapping the cumulative health effects of environmental exposures  SCIENCE DAILY · 4 weeks
The genomics revolution has provided powerful insights into genetic risk factors for human disease while also revealing the limits of genetic determinants, which account for only a fraction of total disease risk.... more
New roles found for Huntington's disease protein  SCIENCE DAILY · 4 weeks
A research team has identified a new function of a gene called huntingtin, a mutation of which underlies the progressive neurodegenerative disorder known as Huntington's Disease. Using genetic mouse models, they have discovered that... more
Discovery could unlock new ways to treat a rare blood disease  NEWS MEDICAL · 3 weeks
A cancer researcher at the University of Alberta has made a discovery that could unlock new ways to treat a rare blood disease. more
Protective protein in the eye lens affects protein oxidation  PHYS.ORG · 3 weeks
The lens of the human eye comprises a highly concentrated protein solution, which lends the lens its great refractive power. Protective proteins prevent these proteins from clumping together throughout a... more
Fruit flies respond to rapid changes in the visual environment thanks to luminance-sensitive lamina neurons  PHYS.ORG · 2 weeks
Vision is fundamentally based on the perception of contrast. When light conditions change, the eye needs a certain... more
Fight for Sight funds research to investigate genetic risk of age-related macular degeneration  NEWS MEDICAL · 4 weeks
Eye research charity Fight for Sight is funding researchers from the University of Manchester to investigate the genetic risk of the UK’s... more
Mysterious virus found in Brazil puzzles scientists with its unique genetic makeup  NEWS MEDICAL · 6 days
A team of Brazilian scientists discovered a puzzling new virus made of genetic material never seen before. But the virus won’t pose a serious... more
Gene ID'd as potential therapeutic target for dementia in Parkinson's  SCIENCE DAILY · 2 weeks
Researchers have discovered that the genetic variant APOE4 -- long linked to dementia -- spurs the spread of harmful clumps of Parkinson's proteins through the brain. The findings... more
Genetic tests to predict heart disease risk have limited benefit  NEWS MEDICAL · 8 hours
Genetic tests to predict a person's risk of heart disease and heart attack have limited benefit over conventional testing. more
Single-cell DNA assessment method can detect fetal genetic abnormalities  NEWS MEDICAL · 2 weeks
Non-invasive prenatal tests are used for fetal genetic disease screening in pregnant women. In contrast, invasive tests like amniocentesis carry the risk of causing fetal harm. more
Clinical trial of two investigational drugs for rare, inherited Alzheimer's yields disappointing results  NEWS MEDICAL · 1 week
An international clinical trial evaluating whether two investigational drugs can slow memory loss and cognitive decline in people in the early stages... more
Drugs fail to slow decline in inherited Alzheimer's disease  ABC NEWS · 1 week
Two experimental drugs have failed to prevent or slow mental decline in a study of people who are virtually destined to develop Alzheimer's disease at a relatively young age because... more
[Research Articles] APOE4 exacerbates {alpha}-synuclein pathology and related toxicity independent of amyloid  Science Magazine · 2 weeks
The apolipoprotein E (APOE) 4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease mainly by driving amyloid-β pathology. Recently, APOE4 has... more
Fruit flies respond to rapid changes in the visual environment  SCIENCE DAILY · 2 weeks
Researchers have discovered a mechanism employed by the fruit fly Drosophila melanogaster that broadens our understanding of visual perception. Their results explain why the eye can correctly evaluate... more
UChicago researchers develop first accurate mouse model of celiac disease  NEWS MEDICAL · 6 days
Researchers at the University of Chicago have developed the first truly accurate mouse model of celiac disease. The animals have the same genetic and immune system characteristics as... more
Rogue cells at root of autoimmune disease  SCIENCE DAILY · 5 days
Breakthrough cellular genomics technology has allowed researchers to reveal genetic mutations causing rogue behavior in the cells that cause autoimmune disease. more
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